-
1
-
-
0019940282
-
Cystine transport is defective in isolated leucocyte lysosomes from patients with cystinosis
-
Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD (1982) Cystine transport is defective in isolated leucocyte lysosomes from patients with cystinosis. Science 217: 1263-1265
-
(1982)
Science
, vol.217
, pp. 1263-1265
-
-
Gahl, W.A.1
Bashan, N.2
Tietze, F.3
Bernardini, I.4
Schulman, J.D.5
-
2
-
-
0031945551
-
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
-
Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, Hoff W van't, Antignac C (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18:319-324
-
(1998)
Nat Genet
, vol.18
, pp. 319-324
-
-
Town, M.1
Jean, G.2
Cherqui, S.3
Attard, M.4
Forestier, L.5
Whitmore, S.A.6
Callen, D.F.7
Gribouval, O.8
Broyer, M.9
Bates, G.P.10
Hoff, W.11
Van't Antignac, C.12
-
3
-
-
0020655131
-
Survival time in cystinosis: A collaborative study
-
Gretz N, Manz F, Augustine R, Barratt TM, Bender-Götze C, Brandis M, Bremer HJ, Brodehl J, Broyer M, Bulla M, Callis L, Chantler C, Diekmann L, Dillon MJ, Egli F, Ehrich JHH, Endress W, Fanconi A, Feldhoff C, C ert J, Gekle D, Geschöll-Bauer B, Grote K, Grüttner R, Hagge W, Haycock GB, Hennemann H, Klare B, Leupold D, Löhr H, Miehalk D, Oliveira A, Ott F, Pistor K, Ran J, Schärer K, Schindera F, Schmidt H, Schulte-Wissermann H, Verrier-Jones K, Weber HP, Willenbockel U, Wolf H (1983) Survival time in cystinosis: a collaborative study. Proc Eur Dial Transplant Assoc 19:582-589
-
(1983)
Proc Eur Dial Transplant Assoc
, vol.19
, pp. 582-589
-
-
Gretz, N.1
Manz, F.2
Augustine, R.3
Barratt, T.M.4
Bender-Götze, C.5
Brandis, M.6
Bremer, H.J.7
Brodehl, J.8
Broyer, M.9
Bulla, M.10
Callis, L.11
Chantler, C.12
Diekmann, L.13
Dillon, M.J.14
Egli, F.15
Ehrich, J.H.H.16
Endress, W.17
Fanconi, A.18
Feldhoff, C.19
C Ert, J.20
Gekle, D.21
Geschöll-Bauer, B.22
Grote, K.23
Grüttner, R.24
Hagge, W.25
Haycock, G.B.26
Hennemann, H.27
Klare, B.28
Leupold, D.29
Löhr, H.30
Miehalk, D.31
Oliveira, A.32
Ott, F.33
Pistor, K.34
Ran, J.35
Schärer, K.36
Schindera, F.37
Schmidt, H.38
Schulte-Wissermann, H.39
Verrier-Jones, K.40
Weber, H.P.41
Willenbockel, U.42
Wolf, H.43
more..
-
4
-
-
0023150727
-
Cysteamine therapy for children with nephropathic cystinosis
-
Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, Denman DW, Schelsselman JJ, Corden BJ, Schneider JA (1987) Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med 316:971-977
-
(1987)
N Engl J Med
, vol.316
, pp. 971-977
-
-
Gahl, W.A.1
Reed, G.F.2
Thoene, J.G.3
Schulman, J.D.4
Rizzo, W.B.5
Jonas, A.J.6
Denman, D.W.7
Schelsselman, J.J.8
Corden, B.J.9
Schneider, J.A.10
-
8
-
-
0023768489
-
Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis
-
Gahl WA, Dalakas MC, Charnas L, Chen K (1988) Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. N Engl J Med 319:1461-1464
-
(1988)
N Engl J Med
, vol.319
, pp. 1461-1464
-
-
Gahl, W.A.1
Dalakas, M.C.2
Charnas, L.3
Chen, K.4
-
9
-
-
0017371960
-
Endocrine studies in cystinosis: Compensated primary hypothyroidism
-
Lucky AW, Howley PM, Megyesi K, Spielberg SP, Schulman JD (1977) Endocrine studies in cystinosis: compensated primary hypothyroidism. J Pediatr 91:204-210
-
(1977)
J Pediatr
, vol.91
, pp. 204-210
-
-
Lucky, A.W.1
Howley, P.M.2
Megyesi, K.3
Spielberg, S.P.4
Schulman, J.D.5
-
10
-
-
0018899061
-
10 years' experience with regular haemodialysis and renal transplantation
-
Chantler C, Carter JE, Bewick M, Counahan R, Cameron JS, Ogg CS, Williams DG, Winder E (1980) 10 years' experience with regular haemodialysis and renal transplantation. Arch Dis Child 55:435-445
-
(1980)
Arch Dis Child
, vol.55
, pp. 435-445
-
-
Chantler, C.1
Carter, J.E.2
Bewick, M.3
Counahan, R.4
Cameron, J.S.5
Ogg, C.S.6
Williams, D.G.7
Winder, E.8
-
11
-
-
0019348933
-
Infantile cystinosis: A reappraisal of early and late symptoms
-
Broyer M, Guillot M, Gubler MC, Habib R (1981) Infantile cystinosis: a reappraisal of early and late symptoms. Adv Nephrol 10:137-166
-
(1981)
Adv Nephrol
, vol.10
, pp. 137-166
-
-
Broyer, M.1
Guillot, M.2
Gubler, M.C.3
Habib, R.4
-
12
-
-
0021407250
-
Diabète induit par les corticoïdes chez six enfants après transplantation rénale
-
Bakchine H, Niaudet P, Gagnadoux MF, Broyer M, Czernichow P (1984) Diabète induit par les corticoïdes chez six enfants après transplantation rénale. Arch Fr Pediatr 41:261-264
-
(1984)
Arch Fr Pediatr
, vol.41
, pp. 261-264
-
-
Bakchine, H.1
Niaudet, P.2
Gagnadoux, M.F.3
Broyer, M.4
Czernichow, P.5
-
13
-
-
0023573885
-
Pancreatic endocrine insufficiency in posttransplant cystinosis
-
Fivush B, Green OC, Porter CC, Balfe JW, O'Regan S, Gahl WA (1987) Pancreatic endocrine insufficiency in posttransplant cystinosis. Am J Dis Child 141:1087-1089
-
(1987)
Am J Dis Child
, vol.141
, pp. 1087-1089
-
-
Fivush, B.1
Green, O.C.2
Porter, C.C.3
Balfe, J.W.4
O'Regan, S.5
Gahl, W.A.6
-
14
-
-
0023838076
-
Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis
-
Fivush B, Flick JA, Gahl WA (1988) Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis. J Pediatr 112:49-51
-
(1988)
J Pediatr
, vol.112
, pp. 49-51
-
-
Fivush, B.1
Flick, J.A.2
Gahl, W.A.3
-
15
-
-
0026055921
-
Renal transplantation in 22 children with nephropathic cystinosis
-
Ehrich JH, Brodehl J, Byrd DI, Hossfeld S, Hoyer PF, Leipert KP, Offner G, Wolff G (1991) Renal transplantation in 22 children with nephropathic cystinosis. Pediatr Nephrol 5:708-714
-
(1991)
Pediatr Nephrol
, vol.5
, pp. 708-714
-
-
Ehrich, J.H.1
Brodehl, J.2
Byrd, D.I.3
Hossfeld, S.4
Hoyer, P.F.5
Leipert, Kp.6
Offner, G.7
Wolff, G.8
-
16
-
-
0027511192
-
Renal transplantation for infantile cystinosis: Long-term follow-up
-
Almond PS, Matas AJ, Nakhleh RE, Morel P, Troppmann C, Najarian JS, Chavers B (1993) Renal transplantation for infantile cystinosis: long-term follow-up. J Pediatr Surg 28: 232-238
-
(1993)
J Pediatr Surg
, vol.28
, pp. 232-238
-
-
Almond, P.S.1
Matas, A.J.2
Nakhleh, R.E.3
Morel, P.4
Troppmann, C.5
Najarian, J.S.6
Chavers, B.7
-
17
-
-
0020073467
-
The pancreatic B cell fraction in children with errors of amino acid metabolism
-
Milner RDG, Wirdnam PK (1982) The pancreatic B cell fraction in children with errors of amino acid metabolism. Pediatr Res 16:213-216
-
(1982)
Pediatr Res
, vol.16
, pp. 213-216
-
-
Milner, R.D.G.1
Wirdnam, P.K.2
-
18
-
-
0031965201
-
Report of the expert committee on the diagnosis and classification of diabetes mellitus
-
The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus (1988) Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care 21:S5-S19
-
(1988)
Diabetes Care
, vol.21
-
-
-
19
-
-
0025765272
-
Body mass index variations: Centiles from birth to 87 years
-
Rolland-Cachera MF, Cole TJ, Sempé M, Tichet J, Rossignol C, Charraud A (1991) Body mass index variations: centiles from birth to 87 years. Eur J Clin Nutr 45:13-21
-
(1991)
Eur J Clin Nutr
, vol.45
, pp. 13-21
-
-
Rolland-Cachera, M.F.1
Cole, T.J.2
Sempé, M.3
Tichet, J.4
Rossignol, C.5
Charraud, A.6
-
21
-
-
0028204065
-
Understanding oral glucose tolerance: Comparison of glucose and insulin measurements during the oral glucose tolerance test with specific measurements of insulin resistance and insulin secretion
-
Phillips DIW, Clark PM, Hales CN, Osmond C (1994) Understanding oral glucose tolerance: comparison of glucose and insulin measurements during the oral glucose tolerance test with specific measurements of insulin resistance and insulin secretion. Diabetic Med 11:286-292
-
(1994)
Diabetic Med
, vol.11
, pp. 286-292
-
-
Phillips, D.I.W.1
Clark, P.M.2
Hales, C.N.3
Osmond, C.4
-
22
-
-
0031053155
-
Insulin responses to intravenous glucose, intravenous arginine and a hyperglycaemic clamp in ICA-positive subjects with different degrees of glucose tolerance
-
Rakotoambinina B, Timsit J, Deschamps I, Laborde K, Gautier D, Jos J, Boitard C, Robert JJ (1997) Insulin responses to intravenous glucose, intravenous arginine and a hyperglycaemic clamp in ICA-positive subjects with different degrees of glucose tolerance. Diabetes Metab 23:43-50
-
(1997)
Diabetes Metab
, vol.23
, pp. 43-50
-
-
Rakotoambinina, B.1
Timsit, J.2
Deschamps, I.3
Laborde, K.4
Gautier, D.5
Jos, J.6
Boitard, C.7
Robert, J.J.8
-
23
-
-
0026602267
-
Role of reduced suppression of glucose production and diminished early insulin release in impaired glucose tolerance
-
Mitrakou A, Kelley D, Mokan M, Veneman T, Pangburn T, Reilly J, Gerich J (1992) Role of reduced suppression of glucose production and diminished early insulin release in impaired glucose tolerance. N Engl J Med 326:22-29
-
(1992)
N Engl J Med
, vol.326
, pp. 22-29
-
-
Mitrakou, A.1
Kelley, D.2
Mokan, M.3
Veneman, T.4
Pangburn, T.5
Reilly, J.6
Gerich, J.7
-
24
-
-
0017083255
-
Insulin and free fatty acid levels during oral glucose tolerance tests and their relation to age in 70 healthy children
-
Lestradet H, Deschamps I, Giron B (1976) Insulin and free fatty acid levels during oral glucose tolerance tests and their relation to age in 70 healthy children. Diabetes 25:505-508
-
(1976)
Diabetes
, vol.25
, pp. 505-508
-
-
Lestradet, H.1
Deschamps, I.2
Giron, B.3
-
25
-
-
0020159899
-
Insulin action and resistance in obesity and noninsulin-dependent type II diabetes mellitus
-
Olefsky JM, Kolterman OG, Scarlett JA (1982) Insulin action and resistance in obesity and noninsulin-dependent type II diabetes mellitus. Am J Physiol 243:E15-E30
-
(1982)
Am J Physiol
, vol.243
-
-
Olefsky, J.M.1
Kolterman, O.G.2
Scarlett, J.A.3
-
27
-
-
85003195436
-
Cortisol-induced-insulin resistance in man: Impaired suppression of glucose production and stimulation of glucose utilization due to a post-receptor detect of insulin action
-
Rizza RA, Mandarino LJ, Gerich JE (1982) Cortisol-induced-insulin resistance in man: impaired suppression of glucose production and stimulation of glucose utilization due to a post-receptor detect of insulin action. J Clin Endocrinol Metab 54:131-137
-
(1982)
J Clin Endocrinol Metab
, vol.54
, pp. 131-137
-
-
Rizza, R.A.1
Mandarino, L.J.2
Gerich, J.E.3
-
28
-
-
0022897165
-
Infantile cystinosis and insulin-dependent diabetes mellitus
-
Ammenti A, Grossi A, Bernasconi S (1986) Infantile cystinosis and insulin-dependent diabetes mellitus. Eur J Pediatr 145: 548-549
-
(1986)
Eur J Pediatr
, vol.145
, pp. 548-549
-
-
Ammenti, A.1
Grossi, A.2
Bernasconi, S.3
|